Total 57 clinical symptoms reported for Restrictive dermopathy 1
| Abnormality of the vasculature |
An abnormality of the vasculature.
Synonyms:Abnormality of blood vessels; Abnormality of the vasculature; Vascular abnormalities |
Very frequent |
| Aplasia/Hypoplasia involving the nose |
Underdevelopment or absence of the nose or parts thereof.
Synonyms:Decreased nasal size; Decreased size of nose |
Very frequent |
| Aplasia/Hypoplasia of the clavicles |
Absence or underdevelopment of the clavicles (collar bones).
Synonyms:Absent/small collarbone; Absent/underdeveloped collarbone |
Very frequent |
| Aplasia/Hypoplasia of the eccrine sweat glands |
Absence or developmental hypoplasia of the eccrine sweat glands.
Synonyms:Hypoplastic-absent eccrine sweat glands |
Very frequent |
| Arthrogryposis multiplex congenita |
Multiple congenital contractures in different body areas.
Synonyms:Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures |
Very frequent |
| Decreased fetal movement |
An abnormal reduction in quantity or strength of fetal movements.
Synonyms:Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements |
Very frequent |
| Decreased skull ossification |
A reduction in the magnitude or amount of ossification of the skull.
Synonyms:Decreased bone formation of skull; Deficient skull ossification; Hypoossification of skull; Ossification defect of skull; Poorly mineralized skull; Poorly ossified skull; Poorly ossified skull bones |
Very frequent |
| Dermal atrophy |
Partial or complete wasting (atrophy) of the skin.
Synonyms:Atrophic skin; Skin atrophy; Skin degeneration |
Very frequent |
| Dermal translucency |
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
Synonyms:Translucent skin |
Very frequent |
| Downslanted palpebral fissures |
The palpebral fissure inclination is more than two standard deviations below the mean.
Synonyms:Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted |
Very frequent |
| Entropion |
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Synonyms:Eyelid turned in |
Very frequent |
| Generalized hyperkeratosis |
Synonyms:Hyperkeratosis, generalized |
Very frequent |
| Hyperkeratosis |
Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.
Synonyms:Epidermal hyperkeratosis |
Very frequent |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Increased anterioposterior diameter of thorax |
Synonyms:Increased anterioposterior diameter of chest |
Very frequent |
| Intrauterine growth retardation |
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Synonyms:Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant |
Very frequent |
| Low-set ears |
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Synonyms:Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia |
Very frequent |
| Micrognathia |
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible |
Very frequent |
| Multiple joint contractures |
This section is currently in development.
|
Very frequent |
| Narrow mouth |
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Synonyms:Microstomia; Narrow mouth; Small mouth; Small oral aperture |
Very frequent |
| Osteopenia |
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Synonyms:Generalized osteopenia |
Very frequent |
| Patent ductus arteriosus |
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Synonyms:Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus |
Very frequent |
| Premature birth |
The birth of a baby of less than 37 weeks of gestational age.
Synonyms:Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time |
Very frequent |
| Premature delivery because of cervical insufficiency or membrane fragility |
This section is currently in development.
|
Very frequent |
| Pulmonary hypoplasia |
Synonyms:Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung |
Very frequent |
| Scaling skin |
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Synonyms:Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin |
Very frequent |
| Short palpebral fissure |
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Synonyms:Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures |
Very frequent |
| Short umbilical cord |
Decreased length of the umbilical cord.
Synonyms:Short umbilical cord |
Very frequent |
| Skin erosion |
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
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Very frequent |
| Small placenta |
Reduced size of the placenta.
Synonyms:Small placenta |
Very frequent |
| Sparse eyebrow |
Decreased density/number of eyebrow hairs.
Synonyms:Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows |
Very frequent |
| Sparse hair |
Reduced density of hairs.
Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth |
Very frequent |
| Sparse or absent eyelashes |
Synonyms:Sparse or absent eyelashes |
Very frequent |
| Structural foot deformity |
A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.
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Very frequent |
| Submucous cleft hard palate |
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Synonyms:Partial thickness cleft hard palate |
Very frequent |
| Telecanthus |
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Synonyms:Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance |
Very frequent |
| Temporomandibular joint ankylosis |
Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
Synonyms:Ankylosis of temporomandibular joint; Freezing of jaw joint; Freezing of the temporomandibular joint; Jaw ankylosis; Rigidity of the temporomandibular joint; Temporomandibular joint fusion |
Very frequent |
| Thin clavicles |
Abnormally reduced diameter (cross section) of the clavicles.
Synonyms:Thin collarbone |
Very frequent |
| Thin ribs |
Ribs with a reduced diameter.
Synonyms:Slender ribs; Thin ribs |
Very frequent |
| Widely patent fontanelles and sutures |
An abnormally increased width of the cranial fontanelles and sutures.
Synonyms:Widely patent fontanels and sutures |
Very frequent |